A86T (p.Ala86Thr) variant of CHD8 (Q9HCK8)
A86T (p.Ala86Thr) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
A86T (p.Ala86Thr) variant details
- p.Ala86Thr
- rs1055413765
- ClinGen CA257558632
- ClinVar RCV001551933
- TOPMed rs1055413765
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- CADD 17.50
- PolyPhen-2 0.02
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)